Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma.
Patients with cerebrotendinous xanthomatosis may present with adolescent-onset cataracts and tendon xanthomas, and can have progressive neurological, myocardial, pulmonary, and endocrine dysfunction leading to death. The disease is inherited as an autosomal recessive and results in increasing deposition of cholesterol and cholestanol in vital organ systems; the primary biochemical abnormality is a block in bile acid synthesis which is manifested by a diminished pool of chenodeoxycholic acid. Replacement therapy with chenodeoxycholic acid may reduce cholesterol and cholestanol production.
D000125:Achilles Tendon; D000328:Adult; D001646:Bile / Q000032:analysis; D002386:Cataract / Q000209:etiology*; D002777:Cholestanols / Q000032:analysis; D002784:Cholesterol / Q000032:analysis; D005260:Female; D005534:Foot Diseases / Q000209:etiology*; D006801:Humans; D014792:Visual Acuity; D014972:Xanthogranuloma, Juvenile / Q000150:complications* / Q000378:metabolism
D002777:Cholestanols; D002784:Cholesterol